‘We are all mutants now’: the trouble with genetic testing

With so many unknowns in our DNA, using genetics in medical testing doesn ’t always bring the answers – sometimes it brings only doubt. By Carrie ArnoldAnneMarie Ciccarella, a fast-talking 57-year-old brunette with more than a hint of a New York accent, thought she knew a lot about breast cancer. Her mother was diagnosed with the disease in 1987, and several other female relatives also developed it. When doctors found a suspicious lump in one of her breasts that turned out to be cancer, she immediately sought out testing to look for mutations in the two BRCA genes, which between them account for around 20% of families with a strong history of breast cancer.Ciccarella assumed her results would be positive. They weren ’t. Instead, they identified only what’s known as a variant of unknown or uncertain significance (VUS) in both BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease, or benign ones that don’t, these genetic variations just aren’t understood enough to know if they are i nvolved or not.Continue reading...

Source: Guardian Unlimited Science - July 18, 2017 Category: Science Authors: Carrie Arnold Tags: Genetics Health Science Biology Society Source Type: news